Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100785 | HP:0100785 | Insomnia | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 146 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 111 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 144 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | CRY1 CL E G H | 1407 | 2384 | OMIM:614163 | Delayed sleep phase disorder, susceptibility to | . | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 2 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 39 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 14 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 23 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 55 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 138 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | HP:0040282 - Frequent | | | 69 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040283 - Occasional | | | 82 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 9 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 21 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040283 - Occasional | | | 7 | | |
HP:0100785 | HP:0100785 | Insomnia | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0100785 | HP:0031356 | Terminal insomnia | 1 | CL E G H | | | | | | | | | | |
HP:0100785 | HP:0031354 | Sleep onset insomnia | 1 | CRY1 CL E G H | 1407 | 2384 | OMIM:614163 | Delayed sleep phase disorder, susceptibility to | | | | 1 | | |
HP:0100785 | HP:0031354 | Sleep onset insomnia | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0100785 | HP:0031354 | Sleep onset insomnia | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0100785 | HP:0031354 | Sleep onset insomnia | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0100785 | HP:0031355 | Maintenance insomnia | 1 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |